ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1056C>T (p.Gly352=)

gnomAD frequency: 0.00001  dbSNP: rs779143637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002112126 SCV002383749 likely benign not provided 2021-11-18 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889043 SCV004704779 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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